Abstract
A boy with a de novo translocation t(5;8)(q11;p23) and an isochromosome 5p is described. The main clinical features found in the complete trisomies 5p are reviewed and the mechanisms of the chromosomal rearrangements involving centromeric and telomeric regions are discussed.
MeSH terms
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Abnormalities, Multiple / genetics*
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Centromere / genetics
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Chromosome Aberrations / genetics*
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Chromosome Banding
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Chromosome Disorders
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Chromosomes, Human, Pair 5*
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Chromosomes, Human, Pair 8*
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Fatal Outcome
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Humans
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Infant
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Isochromosomes
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Karyotyping
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Male
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Telomere / genetics
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Translocation, Genetic*
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Trisomy*